Exome sequencing identifies the cause of a Mendelian disorder

We demonstrate the first successful application of exome sequencing to discover the gene for a rare, Mendelian disorder of unknown cause, Miller syndrome (OMIM %263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40X, a...

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Detalles Bibliográficos
Autores principales: Ng, Sarah B., Buckingham, Kati J., Lee, Choli, Bigham, Abigail W., Tabor, Holly K., Dent, Karin M., Huff, Chad D., Shannon, Paul T., Jabs, Ethylin Wang, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J.
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847889/
https://www.ncbi.nlm.nih.gov/pubmed/19915526
http://dx.doi.org/10.1038/ng.499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847889/
https://www.ncbi.nlm.nih.gov/pubmed/19915526
http://dx.doi.org/10.1038/ng.499

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